Mitochondrial Depletion Syndrome (MDS)

Sponsored diagnostic testing programs for Mitochondrial Depletion Syndrome (MDS)

Mitochondrial Depletion Syndrome (MDS) is a group of rare genetic disorders marked by a significant reduction in mitochondrial DNA within affected tissues. This loss impairs cellular energy production and can lead to severe neurologic, metabolic, and liver-related symptoms early in life.

1 program found for Mitochondrial Depletion Syndrome (MDS)

Programs

1 program
Thymidine Kinase 2 Deficiency (TK2d)Limb Girdle Muscular Dystrophy (LGMD)Mitochondrial Depletion Syndrome (MDS)

Thymidine Kinase 2 Deficiency (TK2d)

Sponsored by
UCB, Inc.

LGMD and MITO Depletion Panel

This program offers no-cost access to a 55-gene panel for patients with symptoms that may indicate TK2 deficiency (TK2d), mitochondrial DNA depletion syndromes (MDS), or LGMD-like presentations with unclear etiology. Because TK2d can clinically overlap with both MDS and LGMD, this broader panel supports efficient evaluation across these disorders. Testing is available at no cost for eligible U.S. patients.

Metabolic
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Performing labPrevention Genetics